KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1
OMIM: 176261, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red KCNE1 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	review	Not set	Sources Literature
Red KCNE1 in Short QT syndrome Level 2: Cardiology Version 3.16 Latest signed off version: v3.14 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources North West GLH Emory Genetics Laboratory Long QT syndrome (Version 1.5) Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695
Green KCNE1 in Long QT syndrome Level 2: Cardiology Version 3.12 Latest signed off version: v3.10 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695
Red KCNE1 in Catecholaminergic polymorphic VT Level 2: Cardiology Version 5.3 Latest signed off version: v5.1 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Red KCNE1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347
Green KCNE1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695
Green KCNE1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347
Red KCNE1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695